A Long-Term Observational Study of Patients With Fucosidosis

NCT07615400 | Recruiting

• 1 other identifier: JR-471-NHX
• Study Type: observational
• Target: 57
• Locations: 5 countries
• Sites: 14

Brief Summary

The purpose of this observational research study is to learn more about the natural history of fucosidosis, its symptoms, and how it develops over time. This study intends to collect information from participants diagnosed with fucosidosis; however, this study does not include any medication or treatment other than the usual medical care provided to study participants. The information collected in this study will be used to help understand the disease characteristics of fucosidosis; with this information potentially being able to help design future studies and treatments for this disease. There is currently no approved treatment for patients with fucosidosis. The study consists of 2 parts: a) Part A - retrospective data collection, and b) Part B - prospective data collection.

Conditions

Fucosidosis

Keywords

fucosidosis; Lysosomal Storage Diseases; alpha-L-Fucosidase; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Alpha-Fucosidase Deficiency; Brain Diseases, Metabolic, Inborn; Lysosomal Storage Diseases, Nervous System

Outcome Measures

Primary Outcomes (1)

• Evaluate the course of disease progression in individuals with fucosidosis who were/are untreated with any investigational products

  These observations are intended to inform possible future treatment studies.

  Baseline to up to 4 years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals of any age diagnosed with fucosidosis. Part A: living and deceased participants. Part B: living participants.

You may qualify if:

• \- Confirmed diagnosis of fucosidosis

You may not qualify if:

• Patient/parent/caregiver not willing to consent to participate
• Patient deceased with no availability of appropriate historical consent, and patient's family/caregivers are either unable to be contacted, or refuse consent to data sharing
• Patient is alive
• Confirmed diagnosis of fucosidosis
• Patient/parent/caregiver not willing to consent to participate
• Current participation in an interventional or therapeutic study
• Patients who, in the opinion of the site investigator, would be unable or unsuitable to participate in the demands of the study

Sponsors & Collaborators

• JCR Pharmaceuticals Co., Ltd.: lead

Study Sites (16)

Children's Hospital of Orange County

Orange, California, 92868, United States

RECRUITING

University of Minnesota Health

Minneapolis, Minnesota, 55455, United States

NOT YET RECRUITING

Indira Gandhi Institute of Child Health, Department of Pediatric Neurology

Bengaluru, 560029, India

NOT YET RECRUITING

Erasmus University Medical Center

Rotterdam, 3015 AA, Netherlands

NOT YET RECRUITING

La Rabta Hospital

Tunis, 1007, Tunisia

NOT YET RECRUITING

National Institute Mongi-Ben Hamida of Neurology of Tunis

Tunis, 1007, Tunisia

NOT YET RECRUITING

Cukurova University, Faculty of Medicine

Adana, 01339, Turkey (Türkiye)

NOT YET RECRUITING

Istanbul University Cerrahpasa Medical Faculty Hospital

Istanbul, 34098, Turkey (Türkiye)

NOT YET RECRUITING

Marmara University Pendik Training and Research Hospital

Istanbul, 34899, Turkey (Türkiye)

NOT YET RECRUITING

Ege University, Faculty of Medicine

Izmir, 35100, Turkey (Türkiye)

NOT YET RECRUITING

Dokuz Eylül University Hospital

Izmir, 35330, Turkey (Türkiye)

NOT YET RECRUITING

Royal Belfast Hospital for Sick Children

Belfast, BT12 6BA, United Kingdom

NOT YET RECRUITING

Birmingham Women's and Children's NHS Foundation Trust

Birmingham, B4 6NH, United Kingdom

NOT YET RECRUITING

National Institute for Health and Care Research Clinical Research Facility, Great Ormond Street Hospital

London, WC1N 3JH, United Kingdom

NOT YET RECRUITING

St. Mary's Hospital, Manchester University NHS Foundation Trust

Manchester, M13 9WL, United Kingdom

NOT YET RECRUITING

Barnes Clinical Research Facility, Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust

Salford, M6 8HD, United Kingdom

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood, urine, cerebrospinal fluid (CSF)

MeSH Terms

Conditions

Fucosidosis; Lysosomal Storage Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Brain Diseases, Metabolic, Inborn; Lysosomal Storage Diseases, Nervous System

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Karolina M Stepien, MD

  Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust

  PRINCIPAL INVESTIGATOR

Central Study Contacts

JCR Pharmaceuticals Co., Ltd.

CONTACT

+81 797 328582; clinical_development@jp.jcrpharm.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 22, 2026
• First Posted: May 29, 2026
• Study Start: March 25, 2026
• Primary Completion (Estimated): January 1, 2031
• Study Completion (Estimated): January 1, 2031
• Last Updated: May 29, 2026

Record last verified: 2026-05

Data Sharing

• IPD Sharing: Will not share

Locations

IN (1); NL (1); TU (5); GB (5); US (2)